Short columella

Symptom Information:

Symptom ID: HPO:0002000
Synonyms:
Columella, short [HPO:0002000]
Short columella [OMIM:Short columella]
Short columella/depressed nasal tip [Orphanet:8570]
Short columella (in some patients) [OMIM:Short columella (in some patients)]
Quality:
Cross references:
Orphanet:8570 "Short columella/depressed nasal tip" [Orphanet:8570]
OMIM: "Short columella" [OMIM:Short columella]
OMIM: "Short columella (in some patients)" [OMIM:Short columella (in some patients)]
Is a (Direct Parents):
Orphanet Abnormality of the nose
Orphanet Depressed nasal tip
HPO         Abnormality of the columella
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of the nose(HPO:0000366)
                   Abnormality of the external nose(HPO:0010938)
                      Abnormality of the columella(HPO:0009929)
                         Short columella(HPO:0002000)
MedDRA:
Database Frequency: 11 / 7739
Resource:

All diseases associated with this symptom:

AREDYLD syndrome (Orphanet:1133)
AUROCEPHALOSYNDACTYLY (OMIM:109050)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Frontonasal dysplasia (Orphanet:250)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
KABUKI SYNDROME 2 (OMIM:300867)
Maxillo-nasal dysplasia (Orphanet:1248)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Scalp-ear-nipple syndrome (Orphanet:2036)